Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
about
Mapping gene associations in human mitochondria using clinical disease phenotypesLoss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseMPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionKinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletionDeficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletionNavajo neurohepatopathy is caused by a mutation in the MPV17 geneMitoP2: the mitochondrial proteome database--now including mouse dataGenes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsStructural basis for the binding of succinate to succinyl-CoA synthetaseThe Role of the Transcription Factor Foxo3 in Hearing Maintenance: Informed Speculation on a New Player in the CochleaInteractions of GTP with the ATP-grasp domain of GTP-specific succinyl-CoA synthetaseMutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletionThymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders.Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.Resistance exercise reverses aging in human skeletal muscle.Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.Integrated weighted gene co-expression network analysis with an application to chronic fatigue syndrome.Mitochondrial mosaics in the liver of 3 infants with mtDNA defectsRapid determination of tricarboxylic acid cycle enzyme activities in biological samples.Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiencyA critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization.Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talkMitochondrial disorders of the nuclear genomeSuccinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.Exclusive neuronal expression of SUCLA2 in the human brain.Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.The genetics of Leigh syndrome and its implications for clinical practice and risk managementMitochondrial DNA polymerase-gamma and human disease.Inherited mitochondrial diseases of DNA replicationEarly-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria
P2860
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P2860
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@ast
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@en
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@en-gb
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@nl
type
label
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@ast
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@en
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@en-gb
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@nl
prefLabel
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@ast
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@en
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@en-gb
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@nl
P2093
P2860
P3181
P356
P1476
Deficiency of the ADP-forming ...... nd mitochondrial DNA depletion
@en
P2093
Alistair Pagnamenta
Chaya Miller
Gili Bondi-Rubinstein
Maria Bitner-Glindzicz
Orly Elpeleg
Shamima Rahman
Sharon Eshhar
P2860
P304
P3181
P356
10.1086/430843
P407
P577
2005-04-22T00:00:00Z